🧬 基因注释：ATP6V1H

官方名称：ATPase H+ transporting V1 subunit H

功能摘要：This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012].

• RBFOX2 综合评分: 0.460 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• PTBP1 综合评分: 0.398 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• Tardbp 综合评分: 0.324 · 证据 1 条
• FUBP1 综合评分: 0.312 · 证据 2 条
• RBM39 综合评分: 0.312 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• Nova2 综合评分: 0.298 · 证据 1 条
• Ptbp2 综合评分: 0.298 · 证据 1 条
• CELF2 综合评分: 0.294 · 证据 2 条
• MBNL2 综合评分: 0.262 · 证据 1 条

该基因暂无关联疾病记录